1. Gene
  2. ALKBH1 - alkB homolog 1, histone H2A dioxygenase Gene

ALKBH1 - alkB homolog 1, histone H2A dioxygenase Gene

Homo sapiens

Also known as ABH; ABH1; alkB; hABH; ALKBH

Gene ID: 8846 | Gene type: protein coding

About ALKBH1

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,672,404-77,708,023 (from NCBI)

This gene has 4 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in testis (RPKM 4.0), thyroid (RPKM 3.4) and 25 other tissues.

Summary

This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]

ALKBH1 Products(1)

mRNA Protein Name
NM_006020.3 NP_006011.2 nucleic acid dioxygenase ALKBH1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 2-oxoglutarate-dependent dioxygenase activity IDA
IDA: Inferred from direct assay
27497299 GOA
enables broad specificity oxidative DNA demethylase activity IDA
IDA: Inferred from direct assay
18603530 GOA
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
IDA: Inferred from direct assay
19959401 GOA
enables ferrous iron binding IDA
IDA: Inferred from direct assay
18603530 GOA
enables oxidative RNA demethylase activity IDA
IDA: Inferred from direct assay
18603530 GOA
enables tRNA binding IDA
IDA: Inferred from direct assay
27497299 GOA
enables tRNA demethylase activity IDA
IDA: Inferred from direct assay
27745969 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA repair IDA
IDA: Inferred from direct assay
19959401 GOA
involved in oxidative RNA demethylation IDA
IDA: Inferred from direct assay
31188562 GOA
involved in positive regulation of gene expression, epigenetic IDA
IDA: Inferred from direct assay
30017583 GOA
involved in regulation of mitochondrial translation IMP
IMP: Inferred from mutant phenotype
27497299 GOA
involved in regulation of translational elongation IMP
IMP: Inferred from mutant phenotype
27745969 GOA
involved in regulation of translational initiation IMP
IMP: Inferred from mutant phenotype
27745969 GOA
involved in regulation of translational initiation by tRNA modification IDA
IDA: Inferred from direct assay
27745969 GOA
involved in tRNA wobble cytosine modification IDA
IDA: Inferred from direct assay
27497299 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
18603530 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALKBH1 Protein Structure

2OG-FeII_Oxy_2

2OG-FeII_Oxy_2: 2OG-Fe(II) oxygenase superfamily (99 - 344)

  • 0
  • 100
  • 200
  • 300
  • 389 a.a.
Protein Preferred Names Protein Names

nucleic acid dioxygenase ALKBH1

DNA 6mA demethylase

Related Diseases

Diseases Alias
Plantar Fasciitis

Fasciitis, Plantar

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ALKBH1 VGNC VGNC:69630
Bos taurus ALKBH1 VGNC VGNC:55101
Mus musculus ALKBH1 MGD MGI:2384034
Canis familiaris ALKBH1 VGNC VGNC:50620
Felis catus ALKBH1 VGNC VGNC:81038
Rattus norvegicus ALKBH1 RGD RGD:1308327